Ida K - Search Results

1

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Yanagi S, Ueda H, Kurosawa K. Kuroda Y, et al. Among authors: ida k. J Hum Genet. 2018 Nov;63(11):1185-1188. doi: 10.1038/s10038-018-0499-7. Epub 2018 Aug 14. J Hum Genet. 2018. PMID: 30108319

2

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Kuroda Y, Ohashi I, Tominaga M, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: ida k. Am J Med Genet A. 2014 Jun;164A(6):1550-4. doi: 10.1002/ajmg.a.36477. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668897

3

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K. Kuroda Y, et al. Among authors: ida k. Am J Med Genet A. 2014 Aug;164A(8):2104-8. doi: 10.1002/ajmg.a.36604. Epub 2014 May 6. Am J Med Genet A. 2014. PMID: 24801133

4

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: ida k. Am J Med Genet A. 2014 Nov;164A(11):2873-8. doi: 10.1002/ajmg.a.36704. Epub 2014 Aug 6. Am J Med Genet A. 2014. PMID: 25099823

5

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: ida k. Am J Med Genet A. 2015 Feb;167A(2):389-93. doi: 10.1002/ajmg.a.36813. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487640

6

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: ida k. Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900396

7

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Shimbo H, Yokoi T, Aida N, Mizuno S, Suzumura H, Nagai J, Ida K, Enomoto Y, Hatano C, Kurosawa K. Shimbo H, et al. Among authors: ida k. Mol Genet Genomic Med. 2017 May 22;5(4):429-437. doi: 10.1002/mgg3.289. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717667 Free PMC article.

8

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Kurosawa K. Kuroda Y, et al. Among authors: ida k. Congenit Anom (Kyoto). 2018 Nov;58(6):191-193. doi: 10.1111/cga.12277. Epub 2018 Mar 25. Congenit Anom (Kyoto). 2018. PMID: 29520887

9

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. Enomoto Y, et al. Among authors: ida k. Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30. Eur J Med Genet. 2020. PMID: 30602132

10

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: ida k. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122

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